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| Sponsored by: |
Office of Rare Diseases (ORD) |
|---|---|
| Information provided by: | Office of Rare Diseases (ORD) |
| ClinicalTrials.gov Identifier: | NCT00542841 |
Purpose
Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the amount of steroids that the body forms. The most common form of CAH is 21-hydroxylase deficiency (21OHD), which leads to cortisol deficiency. This, in turn, causes the development of mature masculine characteristics in newborn, prepubescent, and grown females and in prepubescent males. 21OHD is known to be caused by the mutation of a specific gene. However, symptom severity among people with 21OHD varies, and adults seem to be less affected than children. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.
| Condition | Intervention |
|---|---|
|
21-Hydroxylase Deficiency |
Procedure: Hydrocortisone withdrawal |
| Study Type: | Interventional |
| Study Design: | Diagnostic, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study |
| Official Title: | Modifier Genes in 21-Hydroxylase Deficiency |
| Estimated Enrollment: | 99 |
| Study Start Date: | August 2007 |
| Estimated Study Completion Date: | June 2012 |
| Estimated Primary Completion Date: | May 2012 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
| 1: Experimental |
Procedure: Hydrocortisone withdrawal
This is considered a non-standard treatment. On Day 1, participants will receive one 10-mg pill of hydrocortisone. On Day 3, participants will receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. Participants will receive one last pill of hydrocortisone prior to the end of the study.
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CAH is a genetic steroidogenesis disorder. The most common form, 21OHD, leads to cortisol deficiency and, in turn, an excess of androgen, a hormone that promotes the development and maintenance of male sex characteristics. As a result of this androgen excess, prepubescent males and newborn, prepubescent, and grown females exhibit mature masculine characteristics. The symptoms and severity of 21OHD vary among individuals with the disease and in adults versus children. The reasons for these differences are not yet known. Current therapy for 21OHD consists of administration of glucocorticoids to replace cortisol and suppress excessive pituitary function. With more information about what genes or factors contribute to the severity of 21OHD, researchers may be able to better treat children and adults with the disease. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.
People interested in participating in this 3-day inpatient study will first undergo a physical exam and provide a blood sample to determine eligibility. Eligible participants will be admitted to the study site in the morning on the first study day. A blood sample will be taken and participants will receive one 10-mg pill of hydrocortisone. Heart rates and blood pressures will be taken every 4 hours throughout the day. In the morning of Day 2, a blood sample will be taken and participants will be asked to urinate in the toilet. After this point and until the end of the study, participants will collect all urine in a jug. On the morning of Day 3, participants will complete urine collection and a blood sample will be taken. Participants will then receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. About 1 hour after this, participants will provide a final blood sample. Participants will receive one last pill of hydrocortisone prior to the end of the study.
Eligibility| Ages Eligible for Study: | 18 Years to 50 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Exclusion Criteria:
Contacts and Locations| Contact: Richard J. Auchus, MD, PhD | 214-647-6751 | richard.auchus@utsouthwestern.edu |
| United States, New York | |
| Mount Sinai School of Medicine | Recruiting |
| New York, New York, United States, 10029 | |
| Principal Investigator: Maria I. New, MD | |
| Sub-Investigator: Madeline Harbison, MD | |
| Sub-Investigator: Karen Su, MD | |
| Sub-Investigator: Saroj Nimkarn, MD | |
| Sub-Investigator: Robert Wilson, PhD | |
| United States, Texas | |
| University of Texas Southwestern Medical Center | Recruiting |
| Dallas, Texas, United States, 75390 | |
| Principal Investigator: Richard J. Auchus, MD, PhD | |
| Brazil, SP | |
| University of Sao Paolo | Recruiting |
| Sao Paolo, SP, Brazil, 06403-900 | |
| Principal Investigator: Ivo Arnhold, MD, PhD | |
| Principal Investigator: | Richard J. Auchus, MD, PhD | University of Texas Southwestern Medical Center |
More Information
| Responsible Party: | University of Texas Southwestern Medical Center ( Richard Auchus ) |
| Study ID Numbers: | RDCRN 5607, RR019484 |
| Study First Received: | October 10, 2007 |
| Last Updated: | September 29, 2008 |
| ClinicalTrials.gov Identifier: | NCT00542841 |
| Health Authority: | United States: Federal Government |
|
Adrenal Hyperplasia, Congenital Steroid Biosynthesis Disorders |
|
Hydrocortisone Metabolic Diseases Cortisol succinate Gonadal Disorders Adrenogenital Syndrome Adrenal Gland Diseases Endocrine System Diseases Cosyntropin Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Sex Differentiation Disorders |
Metabolism, Inborn Errors Hyperplasia Adrenal hyperplasia Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital Hydrocortisone acetate Endocrinopathy Epinephrine Metabolic disorder |
|
Anti-Inflammatory Agents Therapeutic Uses Steroid Metabolism, Inborn Errors Pharmacologic Actions |
